Incidental Mutation 'IGL02338:Npy1r'
ID288949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npy1r
Ensembl Gene ENSMUSG00000036437
Gene Nameneuropeptide Y receptor Y1
SynonymsY1-R, Npyr
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL02338
Quality Score
Status
Chromosome8
Chromosomal Location66697192-66706792 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 66704302 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 125 (V125I)
Ref Sequence ENSEMBL: ENSMUSP00000148417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039303] [ENSMUST00000212588]
Predicted Effect probably damaging
Transcript: ENSMUST00000039303
AA Change: V125I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045530
Gene: ENSMUSG00000036437
AA Change: V125I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 50 334 7.8e-11 PFAM
Pfam:7tm_1 56 319 1.1e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212588
AA Change: V125I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the G-protein-coupled receptor superfamily. The encoded transmembrane protein mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a gastrointestinal hormone. The encoded receptor undergoes fast agonist-induced internalization through clathrin-coated pits and is subsequently recycled back to the cell membrane. Activation of Y1 receptors may result in mobilization of intracellular calcium and inhibition of adenylate cyclase activity. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit moderate obesity, mild hyperinsulinemia, reduced activity and energy expenditure, lowered fast-induced refeeding, hyperalgesia, increased neuropathic pain, and resistance to barbiturates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G A 4: 133,062,549 C367Y possibly damaging Het
AI182371 T A 2: 35,085,716 I279L probably benign Het
Ambp A T 4: 63,143,697 C332S probably damaging Het
App T C 16: 85,173,519 T14A probably benign Het
Asap1 A T 15: 64,123,670 probably null Het
Aurka T C 2: 172,359,858 R242G probably benign Het
BC034090 G A 1: 155,217,471 P747L probably damaging Het
Bcl6b T C 11: 70,229,092 D23G probably damaging Het
Cabp2 A C 19: 4,084,154 E42A possibly damaging Het
Ccdc14 G A 16: 34,721,803 S557N probably benign Het
Ccdc146 G T 5: 21,319,606 probably benign Het
Cenpf T A 1: 189,680,418 Q216L probably damaging Het
Ces1b G A 8: 93,057,047 P515L possibly damaging Het
Col6a5 A T 9: 105,878,630 N2198K probably damaging Het
Csmd2 A G 4: 128,395,066 S1133G possibly damaging Het
Cspg5 G A 9: 110,256,267 R502H probably benign Het
Cyp2g1 A G 7: 26,814,804 probably benign Het
Dnajc27 A G 12: 4,096,229 Y86C probably damaging Het
Dnm1 T C 2: 32,312,771 D715G probably damaging Het
Dock1 G T 7: 135,133,075 L1317F possibly damaging Het
Fanci T A 7: 79,433,531 Y727* probably null Het
Fbxw20 T A 9: 109,225,978 T168S probably benign Het
Folh1 A T 7: 86,736,515 probably benign Het
Gas7 A T 11: 67,682,731 S379C probably damaging Het
Gbp2b A G 3: 142,604,226 E259G probably benign Het
Gm8325 T C 3: 60,877,384 noncoding transcript Het
Gm9268 T C 7: 43,047,736 I739T probably damaging Het
Gpr75 A T 11: 30,891,730 T212S probably benign Het
Itgb4 A G 11: 116,007,969 T1711A probably damaging Het
Ly75 T C 2: 60,354,452 S453G probably benign Het
Maneal A G 4: 124,860,483 probably benign Het
Marco A T 1: 120,494,779 I58N possibly damaging Het
Mtcl1 A G 17: 66,379,970 I647T probably damaging Het
Mtfr1l A T 4: 134,530,743 V56D probably damaging Het
Olfr348 C T 2: 36,786,545 Q7* probably null Het
Olfr659 T C 7: 104,671,681 probably benign Het
Olfr843 A G 9: 19,248,664 L245P probably damaging Het
Osmr A T 15: 6,837,729 L362* probably null Het
Pdlim2 T C 14: 70,174,457 D42G probably damaging Het
Plcb4 T A 2: 136,000,180 I89N possibly damaging Het
Prrc2b T A 2: 32,214,035 M1175K probably benign Het
Pzp T A 6: 128,486,170 N1423I probably benign Het
Retnla G A 16: 48,844,198 C105Y probably damaging Het
Samd8 T A 14: 21,775,476 S167T possibly damaging Het
Scg2 A G 1: 79,436,493 M171T possibly damaging Het
Slc30a5 A G 13: 100,803,433 V658A probably damaging Het
Slc41a2 T C 10: 83,316,591 R7G possibly damaging Het
Slc44a2 A G 9: 21,347,042 T500A probably damaging Het
Slc44a4 G T 17: 34,923,810 G396V possibly damaging Het
Smarca5 A G 8: 80,719,570 probably benign Het
St8sia6 T A 2: 13,793,345 R34W probably damaging Het
Stk-ps2 T A 1: 46,030,177 noncoding transcript Het
Stn1 T C 19: 47,513,890 Y235C probably damaging Het
Tbx15 A G 3: 99,352,484 Y557C probably damaging Het
Tgfbr1 G A 4: 47,393,490 probably null Het
Thsd7b G T 1: 129,595,771 V181L probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Trpm4 T G 7: 45,326,998 R51S probably damaging Het
Vmn1r91 A T 7: 20,101,746 T197S probably damaging Het
Xrn1 A G 9: 95,977,827 D424G probably benign Het
Yap1 A G 9: 7,962,281 probably null Het
Zer1 T C 2: 30,113,393 D4G probably damaging Het
Zfp462 A T 4: 55,010,292 I753F possibly damaging Het
Other mutations in Npy1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Npy1r APN 8 66704776 missense probably benign
IGL01629:Npy1r APN 8 66704221 missense probably benign 0.01
IGL02651:Npy1r APN 8 66705023 missense possibly damaging 0.80
Bowery UTSW 8 66704203 missense probably damaging 1.00
marmot UTSW 8 66704289 nonsense probably null
PIT4576001:Npy1r UTSW 8 66704222 missense probably benign 0.03
R0534:Npy1r UTSW 8 66705018 missense probably damaging 1.00
R1518:Npy1r UTSW 8 66704195 missense probably benign 0.05
R1575:Npy1r UTSW 8 66704161 missense probably damaging 1.00
R1768:Npy1r UTSW 8 66704525 missense possibly damaging 0.49
R2144:Npy1r UTSW 8 66705184 missense probably benign 0.18
R2280:Npy1r UTSW 8 66704059 missense possibly damaging 0.94
R3775:Npy1r UTSW 8 66704850 missense possibly damaging 0.90
R5678:Npy1r UTSW 8 66704203 missense probably damaging 1.00
R6721:Npy1r UTSW 8 66704289 nonsense probably null
R7050:Npy1r UTSW 8 66704540 missense probably benign
R7250:Npy1r UTSW 8 66705060 missense probably benign 0.00
R7531:Npy1r UTSW 8 66704894 missense probably damaging 0.98
R7827:Npy1r UTSW 8 66704212 missense possibly damaging 0.57
R8123:Npy1r UTSW 8 66704967 missense probably damaging 0.99
X0022:Npy1r UTSW 8 66705109 missense probably damaging 1.00
Posted On2015-04-16